Gene: [04q2/GNPTA] UDP-N-acetylglucosaminyl-phosphotransferase; mucolipidoses II/III (I cell desease); pseudo-Hurler polydystrophy (MIM:252600; mucolipidosis III);

FUN	Systematic name: UDP-N-acetyl-D-glucosamine:lysosomal-enzyme N-acetyl-D-glucosaminyl-phosphotransferase. The reaction catalyzed: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose = = UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose."
HET	The MIM catalogues indicate both mucolipidosis forms - (II) I-cell disease and (III) pseudo-Hurler polydystrophy, as independent recessive markers under different numbers (MIM:252500 and MIM:252600, respectively). However, both the hypothesis on the allelism of these forms in the gene GNPTA and the hypothesis on the determination of these forms by different genes are not excluded."
REF	PND "Ben-Yoseph &: Clin Genet, 33, 38-43, 1988 PHE,FOG,PAT "Gabel &: PNAS, 80, 775-779, 1983 PHE,FOG,PAT "Gatti &: Hum Genet, 70, 71-73, 1985 PHE,FOG,PAT "Hickman, Neufeld: BBRC, 49, 992-999, 1972 PHE,FOG,PAT "Honey &: Am J Med Genet, 9, 239-253, 1981 PHE,FOG,PAT "Kelly &: Johns Hopkins Med J, 137, 156-175, 1975 PHE,FOG,PAT "Kornfeld S: J Clin Invest, 77, 1-6, 1986 LOC,CYG "Mueller &: CCG, 46, (HGM9), 664, 1987 PHE,FOG,PAT "Mueller &: J Clin Invest, 72, 1016-1023, 1983 PHE,FOG,PAT "Okada &: Clin Genet, 28, 207-215, 1985 PHE,FOG,PAT "Shows &: Am J Med Genet, 12, 343-353, 1982 PHE,FOG,PAT "Sly, Fisher: J Cell Biochem, 18, 67-85, 1982 PHE,FOG,PAT "Varki &: AJHG, 34, 717-729, 1982 PHE,FOG,PAT "Varki &: PNAS, 78, 7773-7777, 1981 LOC,CYG "Vidgoff &: AJHG, 34, 64A, 1982
KEY	mtbd, carb, lys
CLA	coding, basic
LOC	04 q21-23
MIM	MIM: 252500
EZN	ENZYME: 2.7.8.17